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rs137853098

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853098(C;T)
Make rs137853098(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position36819520
GeneRFXAP
is asnp
is mentioned by
dbSNPrs137853098
ebirs137853098
HLIrs137853098
Exacrs137853098
Varsomers137853098
Maprs137853098
PheGenIrs137853098
hapmaprs137853098
1000 genomesrs137853098
hgdprs137853098
ensemblrs137853098
gopubmedrs137853098
geneviewrs137853098
scholarrs137853098
googlers137853098
pharmgkbrs137853098
gwascentralrs137853098
openSNPrs137853098
23andMers137853098
23andMe allrs137853098
SNP Nexus

SNPshotrs137853098
SNPdbers137853098
MSV3drs137853098
GWAS Ctlgrs137853098
Max Magnitude0
OMIM601861
Desc
Variant0004
Relatedalso
ClinVar
Risk rs137853098(T;T)
Alt rs137853098(T;T)
Reference rs137853098(C;C)
Significance Pathogenic
Disease Bare Lymphocyte Syndrome
Variation info
Gene RFXAP
CLNDBN Bare Lymphocyte Syndrome, Type II, Complementation Group D
Reversed 0
HGVS NC_000013.10:g.37393657C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008091.2,